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Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…
Better communication among different institutions is needed to assist young patients with fragile X syndrome make the transition from school into adult life, according to a small study. Support programs for youth with fragile X lack continuity and complementarity, the results indicated. The study, “Factors Impacting…
The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…
Having fewer primary cilia — cellular structures that act like antennas to detect several signals — in nerve cells may contribute to learning and memory deficits in fragile X syndrome, according to a study in mice. These findings suggest that therapeutic approaches designed to increase the number of these…
When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience. Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children…
Investigators at the Mercer University’s College of Pharmacy were awarded almost $425,000 in three-year funding to advance work into serotonin receptors as potential targets for preventing seizures in people with fragile X syndrome, according to a university news story. The R15 grant is funded by the…
The experimental cannabidiol (CBD) gel Zygel eased behavioral problems in children with fragile X syndrome and benefited those with greater disease severity according to their caregivers, new clinical trial data show. The data were presented virtually at the 17th NFXF International Fragile X Conference Research Roundup by…
Measuring the levels of three blood biomarkers could help identify patients with fragile X syndrome who are likely to benefit from treatment with the diabetes medicine metformin, a study suggests. The study, “Blood-Based Biomarkers Predictive of Metformin Target Engagement in Fragile X Syndrome,” was published in the journal…
The common type 2 diabetes medication metformin eased the excessive production of proteins in nerve cells that were engineered in a lab to have the underlying defect seen in people with fragile X syndrome, a study reported. These findings support further development of metformin as a treatment for fragile…
Scientists found evidence of a decoupling between structural and functional changes that weaken synapses (the place where nerve cells communicate). The findings may help identify new therapeutic targets and develop alternative therapies for people with fragile X syndrome, researchers said. The study, “Dissociation of functional and…
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